Canonical Allele Identifier: CA796082569

Gene: SGCB

Linked Data

• dbSNP Id: rs1402124577
• gnomAD v3: 4-52033258-AAATT-A
• gnomAD v4: 4-52033258-AAATT-A
• MyVariant Identifiers: chr4:g.52899425_52899428del (hg19) ; chr4:g.52033259_52033262del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033262_52033265del , CM000666.2:g.52033262_52033265del	GRCh38
NC_000004.11:g.52899428_52899431del , CM000666.1:g.52899428_52899431del	GRCh37
NC_000004.10:g.52594185_52594188del	NCBI36
NG_008891.1:g.10058_10061del , LRG_204:g.10058_10061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.243+169_243+172del MANE Select	ENSP00000370839.6:n.243+169_243+172del
ENST00000381431.9:c.243+169_243+172del	ENSP00000370839.5:n.243+169_243+172del
ENST00000506357.5:c.229+169_229+172del
ENST00000514133.1:c.210+169_210+172del	ENSP00000425818.1:n.210+169_210+172del
NM_000232.4:c.243+169_243+172del , LRG_204t1:c.243+169_243+172del	NP_000223.1:n.243+169_243+172del
XM_006714049.2:c.-165+169_-165+172del	XP_006714112.1:n.-165+169_-165+172del
XM_011534403.1:c.34-3399_34-3396del	XP_011532705.1:n.34-3399_34-3396del
XM_011534404.1:c.-142+169_-142+172del	XP_011532706.1:n.-142+169_-142+172del
NM_000232.5:c.243+169_243+172del MANE Select	NP_000223.1:n.243+169_243+172del